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2005: Brian P Brooks; Robert Kleta; Caroline Stuart; M Tuchman; A Jeong; Sotirios Stergiopoulos; Thalia Bei; B Bjornson; L Russell; J-P Chanoine; Stylianos Tsagarakis; Lr Kalsner; Constantine Straturis
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.
Clinical genetics 2005;68(3):215-21.
2004: Robert Kleta; Elisa Romeo; Zorica Ristic; Toshihiro Ohura; Caroline Stuart; Mauricio Arcos-Burgos; Mital H Dave; Carsten A Wagner; Simone R M Camargo; Sumiko Inoue; Norio Matsuura; Amanda Helip-Wooley; Detlef Bockenhauer; Richard Warth; Isa Bernardini; Gepke Visser; Thomas Eggermann; Philip Lee; Arthit Chairoungdua; Promsuk Jutabha; Ellappan Babu; Sirinun Nilwarangkoon; Naohiko Anzai; Yoshikatsu Kanai; François Verrey; William A Gahl; Akio Koizumi
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
2004: Robert Kleta; Caroline Stuart; Fred A Gill; William A Gahl
Renal glucosuria due to SGLT2 mutations.
Molecular genetics and metabolism 2004;82(1):56-8.
2004: Brian P Brooks; Robert Kleta; Rafael C Caruso; Caroline Stuart; Jonathan Ludlow; Constantine Straturis
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
BMC ophthalmology 2004;4():7.